View clinical trials related to Nervous System Malformations.
Filter by:This observational natural history study will follow individuals with MEHMO (Mental disability, Epileptic seizure, Hypopituitarism/Hypogenitalism, Microcephaly, Obesity) syndrome or an eIF2-pathway related disorder, who have symptoms such as intellectual delay, seizures, abnormal hormone and blood sugar levels, and decreased motor skills. No current treatment for these conditions is available. A major impediment to the testing of potential therapeutic interventions is the lack of well-defined outcome measures. This protocol seeks to identify biochemical and clinical markers to monitor disease progression, and better understand the natural history of these conditions. Any person diagnosed with MEHMO syndrome or related conditions, who can travel to the NIH Clinical Center can participate in this study. The study involves: - General health assessment and evaluation - Imaging studies - Laboratory tests - Collection of blood, urine, spinal fluid, skin biopsy.
The goal of this pilot clinical trial is to test the safety and preliminary performance of the ZetaFuse Bone Graft in patient requiring fusion of the C3-C7 vertebral bones due to pain or loss of neurological function. Participants will be treated with ZetaFuse during surgical intervention to reduce pain and the loss of neurological function.
The fetal CNS screening examination during the mid-trimester scan in low-risk pregnancies should include evaluation of the fetal head and spine, using transabdominal sonography. Evaluation of two axial planes allows visualization of the relevant cerebral structures to assess the anatomic integrity of the fetal brain.These planes are commonly referred to as the transventricular and transcerebellar planes. A third plane, the so-called transthalamic plane, is frequently added, mostly for the purpose of biometry. Structures that should be noted in the routine examination include the lateral ventricles, the cerebellum, the cisterna magna, and the cavum septi pellucidi (CSP). Head shape and brain texture should also be noted on these views.
The fetal CNS screening examination during the mid-trimester scan in low-risk pregnancies should include evaluation of the fetal head and spine, using transabdominal sonography. Evaluation of two axial planes allows visualization of the relevant cerebral structures to assess the anatomic integrity of the fetal brain.These planes are commonly referred to as the transventricular and transcerebellar planes. A third plane, the so-called transthalamic plane, is frequently added, mostly for the purpose of biometry. Structures that should be noted in the routine examination include the lateral ventricles, the cerebellum, the cisterna magna, and the cavum septi pellucidi (CSP). Head shape and brain texture should also be noted on these views.
A phase 2a multi-center, open-label single dose level study of TPN-101 in Patients with Aicardi-Goutières Syndrome (AGS)
Aicardi-Goutières syndrome (AGS) is a disease of children, particularly affecting the brain and the skin. There is a close link between AGS and increased amounts of a chemical called interferon. Normally humans only produce interferon when they are infected with a virus. In AGS, there is no viral infection. Instead, the cells in the cells of affected patients are confused into thinking that their own genetic material is coming from a virus. As a result they produce interferon all the time, which acts as a poison that damages the cells. The Investigators wish to treat AGS patients with drugs called reverse transcriptase inhibitors (RTIs), used to fight the HIV-1 virus that causes AIDS. The investigators will monitor the effect of treatment on interferon levels, and look at other markers which might give us clues to how the drugs are working. The trial is funded by the Medical Research Council, and involves experts based in Edinburgh, Birmingham, Manchester and Great Ormond Street Hospital.
The SARS-CoV-2 epidemic is leading to a large number of patients in intensive care units due to severe hypoxemic pneumonia. After an acute phase that may require controlled mechanical ventilation and deep sedation, removal of sedation often reveals a pathological awakening in the vast majority of patients. This encephalopathy state remains, to date and to our knowledge, unexplained. Clinical features do not appear to fully correlate with regular delirium. This encephalopathy might be explained by deep and prolonged hypoxemia, a wide use of sedation drugs, systemic inflammation or the hostile ICU environment.
Prospective, multi-site, single-arm study to evaluate the diagnostic yield of cWGS in adults with neurological disorders. A single cohort naive of genetic testing will receive standard of care testing for 180 days followed by cWGS. The cohort will be followed for a total of 365 days following enrollment.
The primary objective of this study is to assess safety as well as efficacy of baricitinib, a Janus Kinase (JAK) inhibitor, in patients with Aicardi Goutières Syndrome (AGS), a multisystem heritable disorder of the innate immunity resulting in excessive interferon production
The investigator aims to examine the clinical utility of WES, including assessment of a variety of health-related and reproductive outcomes in undiagnosed prenatal cases.